Smith-Lemli-Opitz Syndrome

Jul 7, 2019 by in OBSTETRICS & GYNAECOLOGY IMAGING Comments Off on Smith-Lemli-Opitz Syndrome

Abstract Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the gene encoding the 7-dehydrocholesterol reductase (7-DHC) resulting in decreased or absent function of this enzyme responsible…

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Trisomy 18

Jul 7, 2019 by in OBSTETRICS & GYNAECOLOGY IMAGING Comments Off on Trisomy 18

Abstract Trisomy 18 (Edwards syndrome) is the second most common autosomal trisomy in newborns. More than 90% of cases are the result of maternal nondisjunction of chromosome 18. Fetuses with…

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Triploidy

Jul 7, 2019 by in OBSTETRICS & GYNAECOLOGY IMAGING Comments Off on Triploidy

Abstract Chromosome abnormalities can be the cause of early pregnancy loss, fetal malformations, and stillbirth. Triploidy is one such chromosome abnormality that leads to a complete extra set of chromosomes….

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Trisomy 13

Jul 7, 2019 by in OBSTETRICS & GYNAECOLOGY IMAGING Comments Off on Trisomy 13

Abstract Trisomy 13 (Patau syndrome) is the third most common autosomal trisomy in newborns. It results from an extra chromosome 13 secondary to nondisjunction or translocation. In the United States,…

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Noonan Syndrome

Jul 7, 2019 by in OBSTETRICS & GYNAECOLOGY IMAGING Comments Off on Noonan Syndrome

Abstract Noonan syndrome is a disorder characterized by specific facial dysmorphisms, cardiovascular defects, short stature, and variable developmental delay. Noonan syndrome should be suspected prenatally in any fetus with cystic…

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Poland Sequence

Jul 7, 2019 by in OBSTETRICS & GYNAECOLOGY IMAGING Comments Off on Poland Sequence

Abstract Poland sequence refers to a congenital unilateral absence of the sternal costal portion of the pectoralis major muscle and ipsilateral upper limb anomalies. The incidence of Poland sequence is…

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Roberts Syndrome

Jul 7, 2019 by in OBSTETRICS & GYNAECOLOGY IMAGING Comments Off on Roberts Syndrome

Abstract Roberts syndrome is a rare genetic disorder characterized by fetal growth restriction, limb reductions, and craniofacial abnormalities. Upper extremities are more severely affected than lower extremities. It is caused…

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Prune-Belly Syndrome

Jul 7, 2019 by in OBSTETRICS & GYNAECOLOGY IMAGING Comments Off on Prune-Belly Syndrome

Abstract Prune-belly syndrome is characterized by urologic abnormalities, flaccidity, or dysplasia in abdominal wall musculature, and cryptorchidism (in males). Because of the poorly developed abdominal wall muscles, the infant’s abdomen…

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